Celebrating women in science - Connie Jiang

"I feel like I’m in quite a privileged position to be studying my own disease. And the best part is being able to work on something that could help out people in a similar sort of position that I was."

22 June 2022

As a medical student, Connie Jiang, never imagined she'd be shortlisted for the prestigious Ralph Reader science prize. Her transition from the hospital to the laboratory was full of surprising opportunities, including the chance to study the same heart disease she was diagnosed with as a teenager.

Congratulations on being shortlisted for the Ralph Reader Prize! What does this mean to you?

To be honest, I wasn't expecting this at all. We sent our abstracts into the Ralph Reader Prize for Young Investigators which is organized by the Cardiac Society of Australia and New Zealand, and I was lucky enough to be chosen. This means I'll get to present at the opening of the CSANZ conference in August and share our work with the community.

Can you briefly explain your research please?

Genetic testing is becoming more and more common and it's a way to both diagnose patients and confirm a diagnosis, especially for inherited conditions. My project is focuses on long QT syndrome type 2, which is a rare cardiac arrhythmic disorder. It's caused by a change in the KCNH2 gene which normally encodes a potassium ion channel that is important in repolarising the heart. If there's a disruption to the function of the channel, it can result in abnormal heart rhythm and that can lead to a person blacking out and even possibly cardiac death. It's a very serious condition. The problem is that an affected person with a mutation might not know they have the disease -until something potentially fatal like a cardiac arrest happens, which can be absolutely devastating for the person and family . The hope of my project is to help improve the yield of genetic testing, to boost diagnosis rates, and to help patients and their families become more aware of their condition.

As a medical student, why did you make the uncommon decision to undertake a project in the laboratory?

At UNSW we have a research year where we just get to go off and choose a project to work on for the year. Prior to fourth year, I had a little bit of experience with lab work at the ANZAC Institute near Concord hospital and I really enjoyed it. For my honours year, I was interested again in doing a lab research project and it just so happened that I had an interest in cardiology and arrhythmia. My sister had a heart condition and I was screened too and then they found out by accident that I had long QT during an ECG about ten years ago. So when I was looking for a research project I was automatically drawn to cardiac field. By chance I was able to find Professor Jamie Vandenberg who specialises in cardiac arrhythmias and long QT. From that first meeting we had, I felt like my mind was just set. The research project sounded really fun and interesting.

Knowing that there are people out there undiagnosed who are at risk of sudden death from a condition that you suffer from, how do you feel about that?

It’s confronting so it’s good to be proactively doing something about it. Long QT is a rare disease with a prevalence of less than one in 2000. Since these conditions are rare, we usually don’t hear about them as much and aren’t as aware of them, compared to say, diabetes or cancer.. A cardiac condition like long QT can very well change the life of a patient and, as well as, their family’s life. It's important that first of all, the condition is picked up accurately and in a timely manner and secondly, that we can offer as much information as possible to patients and families. Fortunately, if it is picked up early, there are treatments available such as, beta blockers and cardiac defibrillators. The challenge is detecting the disease, more so than treating it.

And you're hopeful that your research will do that?

Yes. There's a lot of work to be done, but I think that it will play its part! We’ve just had a paper published in the American Journal of Human Genetics. It’s part of a series of papers showing how functional assays or lab assays can shed light on the results of genetic testing for patients. We’ve basically developed a new electrical screening test for those at risk of sudden cardiac arrest linked to long QT.

You must be excited to have a paper published as an honours student

Very! This is probably one of the best outcomes I could've hoped for.

Earlier you said you've had a little bit of lab experience, but what was it like switching from a medical workplace to the lab?

I signed up to it expecting a bit of a challenge and it was. I'm not the best with my hands but I think my co-supervisor Andy Ng really helped me get familiar with cell culturing . I got to see all sorts of lab techniques and use fancy expensive equipment like the Syncropatch.

There's this belief that research year can be a bit lonely because you are going off by yourself away from the uni environment. To my surprise, that wasn't at all the case. And part of it was because of the good support offered by my supervisors, Professor Vandenberg and Andy Ng, but there was a a lot of other students around too. We had three honours students in our lab and it was just a really great time we had together.